769065000: Tubulin beta 4A class IVa related leukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Neurological lesion\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Tubulin beta 4A class IVa related leukodystrophy

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3688042017	TUBB4A-related leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3688043010	TUBB4A (tubulin beta 4A class IVa) related leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3688044016	Tubulin beta 4A class IVa related leukodystrophy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3688045015	Tubulin beta 4A class IVa related leukodystrophy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3688046019	TUBB4A-related hypomyelinating leukodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3688017014	A disorder of the nervous system white matter and myelin resulting in hypomyelination and in some cases also demyelination. There are different combinations of signs and symptoms of the disease, at the most severe end of the spectrum is hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). At the mildest end is isolated hypomyelination. The features in other individuals with TUBB4A-related leukodystrophy fall in between these two extremes. The disease is caused by mutations in the TUBB4A gene, which provides instructions for making a protein called beta-tubulin. Inherited in an autosomal dominant pattern however most cases are the result of de novo mutations in the gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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